Genetic Determinants of Cataract

白内障的遗传决定因素

基本信息

批准号：
7260923
负责人：
Alan Shiels
金额：
$ 34.2万
依托单位：
WASHINGTON UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
1998
资助国家：
美国
起止时间：
1998-07-01 至 2012-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7260923
关键词：
1p36 Accounting Age American Blindness Budgets Candidate Disease Gene Cataract Cells Charge Childhood Chromosome Mapping Chromosomes Custom Data Development Diagnosis Diagnostic Disease Endosomes Environmental Risk Factor Epidemiologic Studies Epithelial Cells Evaluation Family Fluorescence Microscopy Foundations Gene Mutation Genes Genetic Genetic Determinism Genetic Predisposition to Disease Genotype Goals Inherited Knock-in Mouse Link Maps Medicare Molecular Molecular Genetics Molecular Profiling Morphology Mus Mutation Ophthalmologic Surgical Procedures Phenotype Proteins Public Health RNA amplification Research Running Single Nucleotide Polymorphism Techniques Technology Testing Therapeutic Transcript Transfection Transgenic Mice Vision Visual impairment age related base case control cohort congenital cataract design gene environment interaction genetic linkage analysis improved insight lens light microscopy mutant novel prevent

项目摘要

DESCRIPTION (provided by applicant): Cataract is a leading cause of vision loss and accounts for -45% of blindness worldwide. Epidemiological studies have shown that cataract is a multi-factorial disease involving genetic and environmental factors. The goal of this study is to improve understanding of the molecular genetic basis of cataract. The proposal has three specific aims. In specific aim 1, we will use cell transfection and transgenic mouse techniques to characterize the pathogenic effects of a mutation in a novel gene for inherited cataract. In specific aim 2, we will use expression-profiling and mutation-profiling techniques to identify a novel gene for inherited cataract. In specific aim 3, we will use a custom re-sequencing array to test for association between genes for inherited cataract and age-related cataract. Results from these genetic studies will 1) provide new insights regarding the molecular basis of lens development and aging, 2) contribute to the design of gene-based diagnostics and therapeutics for cataract management, and 3) enable better evaluation of the gene-gene versus gene-environment interactions underlying cataract development. Public health relevance: Cataract afflicts more than 20 million Americans over age 40 and is the most common reason for eye surgery, accounting for -60% of the Medicare vision budget. Cataract is also a significant cause of visual impairment in childhood. This research aims to identify and characterize genetic factors that cause cataract to run in families and develop new ways to diagnose, treat and even prevent cataract.

描述（由申请人提供）：白内障是视力丧失的主要原因，占全球失明的-45%。流行病学研究表明，白内障是一种涉及遗传和环境因素的多因素疾病。这项研究的目的是提高对白内障分子遗传学基础的了解。该提案有三个具体目标。在具体目标 1 中，我们将使用细胞转染和转基因小鼠技术来表征遗传性白内障新基因突变的致病作用。在具体目标 2 中，我们将使用表达谱和突变谱技术来鉴定遗传性白内障的新基因。在具体目标 3 中，我们将使用定制的重测序阵列来测试遗传性白内障和年龄相关性白内障基因之间的关联。这些基因研究的结果将 1) 提供关于晶状体发育和老化的分子基础的新见解，2) 有助于设计基于基因的白内障诊断和治疗方法，3) 能够更好地评估基因与基因之间的关系白内障发展的基因-环境相互作用。公共卫生相关性：白内障困扰着超过 2000 万 40 岁以上的美国人，是眼科手术最常见的原因，占医疗保险视力预算的 -60%。白内障也是儿童视力障碍的一个重要原因。这项研究旨在识别和描述导致白内障家族遗传的遗传因素，并开发诊断、治疗甚至预防白内障的新方法。